Endocrinology, Diabetes & Metabolism Case Reports (Feb 2022)

Non-balanced translocation between the short arms of chromosomes 8 and 6 associated with type 1 diabetes mellitus

  • Vitor Scalone Netto,
  • Gabriel Bellincanta,
  • Guido de Paula Colares Neto,
  • Nara Michelle de Araujo Evangelista,
  • Carolina Costa Figueiredo,
  • Patricia Salmona,
  • Vânia de Fátima Tonetto-Fernandes

DOI
https://doi.org/10.1530/EDM-20-0197
Journal volume & issue
Vol. 1, no. 1
pp. 1 – 5

Abstract

Read online

We describe a rare case of a girl with an initial diagnostic hypothesis of chromosome 8 trisomy based on clinical findings and karyotyping, which identified a structural change in the short arm of chromosome 8 (46,XX,add(8)(p23)). At the age of 7, she developed type 1 diabetes mellitus and started insulin therapy with multiple daily doses, and then she started to use a continuous insulin infusion system (pump) at 10 years of age. At the age of 12, she underwent a molecular study that identified an unbalanced translocation between the short arms of chromosomes 6 and 8 – 46,XX,add(8)(p23).ish der(8) t(6;8)(GS-196I5+;RP-11338B22−).